List of works - Zdeněk Kleibl

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants

scientific article published on 19 November 2019

Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma

scientific article

Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations

scientific article published on 04 December 2007

Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma

scientific article published on 27 October 2015

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

scientific article published on 12 December 2020

CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer.

scientific article

Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data

scientific article

Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients

scientific article published in August 2009

Determining Omics spatiotemporal dimensions using exciting new nanoscopy techniques to assess complex cell responses to DNA damage: part A--radiomics.

scientific article

Establishment, growth and in vivo differentiation of a new clonal human cell line, EM-G3, derived from breast cancer progenitors.

scientific article published on 25 October 2006

Expression of adipokines and estrogen receptors in adipose tissue and placenta of patients with gestational diabetes mellitus

article

Expression of attractin and its differential enzyme activity in glioma cells

scientific article published in June 2001

Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.

scientific article

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system

scientific article published on 09 March 2019

Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint

scientific article published on 6 May 2013

Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations

scientific article published on 10 January 2019

Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis

scientific article

Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women.

scientific article published on 11 April 2012

Hereditary truncating mutations of DNA repair and other genes inBRCA1/BRCA2/PALB2-negatively tested breast cancer patients

article

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

scientific article

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

scientific article

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

scientific article published on 20 May 2019

Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemothera

scientific article

Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity

scientific article published on 14 March 2009

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

scientific article published on 13 April 2020

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

scientific article published on 14 September 2017

Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic

scientific article published on 9 June 2015

Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.

scientific article published on 23 May 2007

Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic

scientific article

Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic.

scientific article

No association between the TP53 codon 72 polymorphism and risk or prognosis of Hodgkin and non-Hodgkin lymphoma

scientific article published on 05 May 2011

Novel complex genomic rearrangement of the BRCA1 gene

scientific article published in January 2008

Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers

scientific article published in January 2010

RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk

scientific article published on 01 October 2016

Rapid detection of CAA/CAG repeat polymorphism in the AIB1 gene using DHPLC

scientific article published on 09 December 2006

Role of single nucleotide polymorphisms and haplotypes in BRCA1 in breast cancer: Czech case-control study.

scientific article

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene

scientific article published on 5 February 2010

Screening for inherited mutations in the Czech high risk breast cancer patients – analysis of 400 families

scientific article published in July 2008

The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development

scientific article published on 27 April 2010

The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells.

scientific article published on 3 January 2012

The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic

scientific article published on 01 March 2005

The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population

scientific article published on 06 November 2008

The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

scientific article published on 17 October 2013

The c.657del5 variant in the NBN gene predisposes to pancreatic cancer

scientific article published on 2 May 2016

The role of ATM in breast cancer development.

scientific article published on 24 October 2006

Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon

scientific article published on 28 October 2019

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

scientific article published on 12 April 2018

[CZECANCA: CZEch CAncer paNel for Clinical Application-- Design and Optimization of the Targeted Sequencing Panel for the Identification of Cancer Susceptibility in High-risk Individuals from the Czech Republic]

scientific article published on 01 January 2016

[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]

scientific article published on 01 January 2016

Onkologie v klinické praxi: standardní přístupy v diagnostice a léčbě vybraných zhoubných nádorů

book edition published in 2016

Onkologie v klinické praxi: standardní přístupy v diagnostice a léčbě vybraných zhoubných nádorů

book edition published in 2019

List of works by Zdeněk Kleibl

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants

Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma

Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations

Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer.

Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data

Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients

Determining Omics spatiotemporal dimensions using exciting new nanoscopy techniques to assess complex cell responses to DNA damage: part A--radiomics.

Establishment, growth and in vivo differentiation of a new clonal human cell line, EM-G3, derived from breast cancer progenitors.

Expression of adipokines and estrogen receptors in adipose tissue and placenta of patients with gestational diabetes mellitus

Expression of attractin and its differential enzyme activity in glioma cells

Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system

Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint

Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations

Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis

Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women.

Hereditary truncating mutations of DNA repair and other genes inBRCA1/BRCA2/PALB2-negatively tested breast cancer patients

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemothera

Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic

Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.

Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic

Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic.

No association between the TP53 codon 72 polymorphism and risk or prognosis of Hodgkin and non-Hodgkin lymphoma

Novel complex genomic rearrangement of the BRCA1 gene

Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers

RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk

Rapid detection of CAA/CAG repeat polymorphism in the AIB1 gene using DHPLC

Role of single nucleotide polymorphisms and haplotypes in BRCA1 in breast cancer: Czech case-control study.

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene

Screening for inherited mutations in the Czech high risk breast cancer patients – analysis of 400 families

The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development

The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells.

The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic

The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population

The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

The c.657del5 variant in the NBN gene predisposes to pancreatic cancer

The role of ATM in breast cancer development.

Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

[CZECANCA: CZEch CAncer paNel for Clinical Application-- Design and Optimization of the Targeted Sequencing Panel for the Identification of Cancer Susceptibility in High-risk Individuals from the Czech Republic]

[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]

Onkologie v klinické praxi: standardní přístupy v diagnostice a léčbě vybraných zhoubných nádorů

Onkologie v klinické praxi: standardní přístupy v diagnostice a léčbě vybraných zhoubných nádorů